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Ontology Browser

Term:
Blepharophimosis with Ptosis, Syndactyly, and Short Stature (DOID:9001259)
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Parent Terms Term With Siblings Child Terms
blepharophimosis +     
Growth Disorders +     
Skin Abnormalities +     
syndactyly +     
3p deletion syndrome 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrocephalosyndactylia +   
acrodermatitis +   
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acrootoocular Syndrome 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Anetoderma +   
Aphalangia Syndactyly Microcephaly 
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 
Auriculoosteodysplasia 
Aurocephalosyndactyly 
Autoinflammation with Arthritis and Dyskeratosis  
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects  
Ayme-Gripp syndrome  
Bainbridge-Ropers syndrome  
Barber-Say syndrome  
Beare-Stevenson cutis gyrata syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
Bloch-Sulzberger syndrome +   
Bonneau Syndrome 
Book Syndrome 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
brachydactyly type E2  
brachydactyly-syndactyly syndrome  
C1q Deficiency  
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Carney complex +   
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cenani-Lenz syndactyly syndrome  
Chitty Hall Baraitser Syndrome 
chromosome 15q26-qter deletion syndrome 
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
Clark-Baraitser syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
congenital heart defects, hamartomas of tongue, and polysyndactyly  
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crossed Polysyndactyly 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Cutaneous Hemangiomatosis with Associated Features 
Daish Hardman Lamont Syndrome 
Dermal Ridges, Nelson Syndrome 
Dermoids of Cornea 
Dermoodontodysplasia 
Devriendt syndrome 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome  
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Dyschondrosteosis and Nephritis 
dyskeratosis congenita +   
ectodermal dysplasia +   
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Familial Dyskeratotic Comedones 
Familial Osteochondritis Dissecans  
Familial Popliteal Pterygium Syndrome 
fetal encasement syndrome  
Fetal Growth Retardation +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi syndrome  
Floating-Harbor syndrome  
Forsythe-Wakeling Syndrome 
Fraser syndrome +   
Frias Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Game Friedman Paradice Syndrome 
GAPO syndrome  
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
glycogen storage disease IX +   
Gollop Coates Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Grange Syndrome  
Green Sandford Davison Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows 
Hairy Palms and Soles 
Heme Oxygenase 1 Deficiency  
Hereditary Benign Intraepithelial Dyskeratosis 
Hereditary Sclerosing Poikiloderma +   
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
Hypohidrosis with Abnormal Palmar Dermal Ridges 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
ichthyosis +   
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Isolated Pterygium Colli 
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Kaufman oculocerebrofacial syndrome  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Kleiner Holmes Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kuster Majewski Hammerstein Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Landy Donnai Syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leri-Weill dyschondrosteosis  
lethal restrictive dermopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
Marden-Walker Syndrome  
Martinez Monasterio Pinheiro Syndrome 
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction  
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microdontia Hypodontia Short Stature 
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
MLS syndrome +   
Mollica Pavone Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple benign circumferential skin creases on limbs +   
multiple pterygium syndrome +   
Multiple Self-healing Palmoplantar Carcinoma  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Naguib-Richieri-Costa Syndrome 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Ogden syndrome  
Ohdo syndrome +   
omodysplasia 1  
Onat Syndrome 
orofacial cleft 7 +   
Osteolysis Syndrome, Recessive 
Partington Anderson Syndrome 
Patternless Dermal Ridges 
Pavone Fiumara Rizzo Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Periventricular Nodular Heterotopia 7  
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Rockelein Syndrome 
Piepkorn Karp Hickok syndrome 
Pili Torti, Developmental Delay, Neurological Abnormalities  
Pilotto Syndrome 
poikiloderma with neutropenia  
Poland syndrome 
Polydysspondyly 
popliteal pterygium syndrome +   
Port-Wine Stain +   
Postaxial Polydactyly, Type A4 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
prolidase deficiency  
pseudoxanthoma elasticum +   
PSPH deficiency  
Qazi Markouizos syndrome 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Ridges-off-the-end Syndrome 
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti Syndrome 
Rothmund-Thomson syndrome +   
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Say Meyer Syndrome  
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Sclerema Neonatorum 
sclerosteosis +   
Seemanova Lesny Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SHOX-related short stature  
SIDDIQI SYNDROME  
Silver-Russell Syndrome 3  
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
Slavotinek Pike Mills Hurst Syndrome 
Sonoda Syndrome 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondylometaphyseal dysplasia corner fracture type  
Stapes Ankylosis with Broad Thumbs and Toes  
Stern Lubinsky Durrie Syndrome 
syndactyly type 1  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
Syndactyly Type 6 
syndactyly type 8  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
synpolydactyly +   
tarsal-carpal coalition syndrome +   
Tatton-Brown-Rahman Syndrome  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Timothy syndrome  
Tonoki Syndrome 
trichothiodystrophy +   
Trueb Burg Bottani Syndrome 
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Urban Schosser Spohn Syndrome  
Van den Ende-Gupta syndrome  
Vascular Hyalinosis 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Weill-Marchesani Syndrome 2  
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winter Shortland Temple Syndrome  
Wittwer Syndrome  
xeroderma pigmentosum +   
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 
zygodactyly 1 

Synonyms
Primary IDs: MESH:C536235 ;   RDO:0001728

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